ClinVar for Gene (Select 717) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3191901	NM_181842.3(ZBTB12):c.757C>G (p.Pro253Ala)	C2, ZBTB12 (P253A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191900	NM_181842.3(ZBTB12):c.520C>T (p.Pro174Ser)	C2, ZBTB12 (P174S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191899	NM_181842.3(ZBTB12):c.479C>T (p.Pro160Leu)	C2, ZBTB12 (P160L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191898	NM_181842.3(ZBTB12):c.32A>G (p.Gln11Arg)	C2, ZBTB12 (Q11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3191897	NM_181842.3(ZBTB12):c.18A>T (p.Glu6Asp)	C2, ZBTB12 (E6D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135840	NM_000063.6(C2):c.940C>G (p.Arg314Gly)	C2, C2-AS1 (R285G +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3135838	NM_000063.6(C2):c.202G>A (p.Gly68Arg)	C2 (G68R)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3135837	NM_000063.6(C2):c.2023T>G (p.Cys675Gly)	C2 (C429G +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135836	NM_000063.6(C2):c.1758G>A (p.Met586Ile)	C2 (M586I +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3135835	NM_000063.6(C2):c.136C>T (p.Leu46Phe)	C2 (L46F)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3135834	NM_000063.6(C2):c.1234G>A (p.Gly412Arg)	C2 (G166R +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076005	NM_000063.6(C2):c.1063C>T (p.Arg355Ter)	C2, C2-AS1 (R109* +4 more)	Single nucleotide variant (nonsense)	Complement component 2 deficiency	GUncertain significance
Select item 3038897	NM_181842.3(ZBTB12):c.240C>T (p.Ile80=)	C2, ZBTB12	Single nucleotide variant (synonymous variant +2 more)	C2-related condition +1 more	GBenign
Select item 3025505	NM_181842.3(ZBTB12):c.1269C>G (p.Arg423=)	C2, ZBTB12	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 3004179	NM_000063.6(C2):c.189G>C (p.Leu63=)	C2 (C25S)	Single nucleotide variant (genic upstream transcript variant +3 more)	not provided	GLikely benign
Select item 3003915	NM_000063.6(C2):c.1239G>A (p.Val413=)	C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003517	NM_000063.6(C2):c.217C>T (p.Pro73Ser)	C2 (P73S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 3002151	NM_000063.6(C2):c.93G>A (p.Ser31=)	C2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 3001648	NM_000063.6(C2):c.849+13G>A	C2 (E288K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2997774	NM_000063.6(C2):c.2140C>T (p.Arg714Cys)	C2 (R685C +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996206	NM_000063.6(C2):c.1734-16T>C	C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995465	NM_000063.6(C2):c.2029+13C>T	C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981898	NM_000063.6(C2):c.1801A>G (p.Arg601Gly)	C2 (R387G +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976883	NM_000063.6(C2):c.1940C>A (p.Thr647Asn)	C2 (T433N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2976443	NM_000063.6(C2):c.1530C>A (p.Arg510=)	C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965736	NM_000063.6(C2):c.768C>G (p.Tyr256Ter)	C2 (Y227* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2958806	NM_000063.6(C2):c.567G>A (p.Arg189=)	C2 (G21E)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2955805	NM_000063.6(C2):c.988+17G>A	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906946	NM_000063.6(C2):c.925C>T (p.Leu309=)	C2, C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2898504	NM_000063.6(C2):c.1530C>T (p.Arg510=)	C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890752	NM_000063.6(C2):c.2045C>A (p.Ala682Glu)	C2 (A436E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884986	NM_000063.6(C2):c.744G>A (p.Gln248=)	C2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2876427	NM_000063.6(C2):c.630T>A (p.Tyr210Ter)	C2 (Y210* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2870130	NM_000063.6(C2):c.795_796del (p.Ser266fs)	C2 (S134fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2857247	NM_000063.6(C2):c.1903-14C>T	C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842298	NM_000063.6(C2):c.1654C>T (p.Gln552Ter)	C2 (Q306* +4 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2841957	NM_000063.6(C2):c.1068C>A (p.Leu356=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837543	NM_000063.6(C2):c.954G>A (p.Glu318=)	C2, C2-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2833932	NM_000063.6(C2):c.1902+10T>C	C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2819477	NM_000063.6(C2):c.1740C>T (p.Ile580=)	C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818258	NM_000063.6(C2):c.1903-12C>T	C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2818188	NM_000063.6(C2):c.970G>T (p.Glu324Ter)	C2, C2-AS1 (E324* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2807544	NM_000063.6(C2):c.2127T>C (p.Ala709=)	C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802742	NM_000063.6(C2):c.1455+15G>A	C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790115	NM_000063.6(C2):c.2030-13C>T	C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2786103	NM_000063.6(C2):c.1456-10T>G	C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2785671	NM_000063.6(C2):c.47-17T>G	C2	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2785211	NM_000063.6(C2):c.257-15T>G	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 2782000	NM_000063.6(C2):c.46+12G>T	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 2780731	NM_000063.6(C2):c.1361-4A>G	C2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779983	NM_000063.6(C2):c.1433C>A (p.Thr478Lys)	C2 (T232K +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2770819	NM_000063.6(C2):c.1005T>G (p.Thr335=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2755157	NM_000063.6(C2):c.1628G>A (p.Gly543Glu)	C2 (G543E +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2754430	NM_000063.6(C2):c.749C>T (p.Ser250Phe)	C2 (S250F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2750154	NM_000063.6(C2):c.917del (p.Met306fs)	C2, C2-AS1 (M174fs +3 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2748897	NM_000063.6(C2):c.160G>A (p.Gly54Ser)	C2 (G54S)	Single nucleotide variant (missense variant +3 more)	not provided	GUncertain significance
Select item 2748811	NM_000063.6(C2):c.72C>T (p.Cys24=)	C2	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 2744163	NM_000063.6(C2):c.716-17del	C2	Deletion (intron variant)	not provided	GBenign
Select item 2741833	NM_000063.6(C2):c.442+18T>C	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GLikely benign
Select item 2726593	NM_000063.6(C2):c.2030-1G>A	C2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2719815	NM_000063.6(C2):c.2151C>G (p.Ala717=)	C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2715558	NM_000063.6(C2):c.1287G>A (p.Lys429=)	C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2706458	NM_000063.6(C2):c.1361-1G>T	C2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2703811	NM_000063.6(C2):c.381T>A (p.Pro127=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2693264	NM_000063.6(C2):c.1442A>T (p.His481Leu)	C2 (H267L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2656432	NM_000063.6(C2):c.849+75C>T	C2	Single nucleotide variant (synonymous variant +1 more)	C2-related condition +1 more	GLikely benign
Select item 2628464	NM_000063.6(C2):c.557C>G (p.Ser186Cys)	C2 (L18V +4 more)	Single nucleotide variant (missense variant)	C2-related condition	GUncertain significance
Select item 2618827	NM_181842.3(ZBTB12):c.611A>G (p.Asp204Gly)	C2, ZBTB12 (D204G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2609738	NM_000063.6(C2):c.104T>C (p.Phe35Ser)	C2 (F35S)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2600823	NM_000063.6(C2):c.2156G>A (p.Arg719His)	C2 (R473H +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2598118	NM_000063.6(C2):c.1244A>C (p.Lys415Thr)	C2 (K201T +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557712	NM_000063.6(C2):c.90C>G (p.Ile30Met)	C2 (I30M)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2555805	NM_000063.6(C2):c.2208G>C (p.Gln736His)	C2 (Q736H +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487693	NM_181842.3(ZBTB12):c.781G>T (p.Gly261Cys)	C2, ZBTB12 (G261C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484627	NM_000063.6(C2):c.485G>A (p.Arg162Gln)	C2 (R30Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2458048	NM_181842.3(ZBTB12):c.1134G>A (p.Met378Ile)	C2, ZBTB12 (M378I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2427350	NC_000006.11:g.(?_30695893)_(36953949_?)dup	KIFC1, LEMD2 +172 more	Duplication	Proteasome-associated autoinflammatory syndrome 1	GUncertain significance
Select item 2424220	NC_000006.11:g.(?_30695893)_(31937492_?)dup	ABHD16A, AIF1 +63 more	Duplication	not provided	GUncertain significance
Select item 2415298	NM_000063.6(C2):c.348G>A (p.Glu116=)	C2	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2415071	NM_000063.6(C2):c.1187T>C (p.Leu396Pro)	C2, C2-AS1 (L150P +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2403182	NM_000063.6(C2):c.263G>A (p.Arg88His)	C2 (R59H +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2394276	NM_181842.3(ZBTB12):c.418G>A (p.Glu140Lys)	C2, ZBTB12 (E140K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2387482	NM_181842.3(ZBTB12):c.567C>G (p.Asp189Glu)	C2, ZBTB12 (D189E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2306883	NM_000063.6(C2):c.1171C>T (p.His391Tyr)	C2, C2-AS1 (H145Y +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280302	NM_181842.3(ZBTB12):c.822A>C (p.Glu274Asp)	C2, ZBTB12 (E274D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2276131	NM_000063.6(C2):c.158A>T (p.Gln53Leu)	C2 (R15W +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GLikely benign
Select item 2238526	NM_000063.6(C2):c.271G>A (p.Ala91Thr)	C2 (A62T +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2227592	NM_000063.6(C2):c.524A>G (p.Tyr175Cys)	C2 (I7V +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2192515	NM_000063.6(C2):c.1155C>T (p.Pro385=)	C2, C2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189386	NM_000063.6(C2):c.47-9C>G	C2	Single nucleotide variant (genic upstream transcript variant +1 more)	not provided	GUncertain significance
Select item 2187687	NM_000063.6(C2):c.1777C>T (p.Arg593Trp)	C2 (R347W +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2184773	NM_000063.6(C2):c.1342G>C (p.Val448Leu)	C2 (V202L +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2179104	NM_000063.6(C2):c.616+2T>G	C2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2176552	NM_000063.6(C2):c.727C>T (p.Arg243Cys)	C2 (R111C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2172063	NM_000063.6(C2):c.2169G>A (p.Pro723=)	C2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2135155	NM_000063.6(C2):c.298T>C (p.Tyr100His)	C2 (Y100H +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2125804	NM_000063.6(C2):c.1016C>A (p.Thr339Asn)	C2-AS1, C2 (T207N +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125769	NM_000063.6(C2):c.719G>A (p.Ser240Asn)	C2 (S108N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2125178	NM_000063.6(C2):c.1733+1G>A	C2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2121712	NM_000063.6(C2):c.850-20C>T	C2, C2-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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